ClinVar Miner

List of variants in gene DHCR7 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00015
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln) rs201556114 0.00002
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744 0.00001
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val) rs770174208 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1090A>G (p.Thr364Ala) rs1085307925 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223 0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693 0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys) rs765154144 0.00001
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg) rs761458977 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.412+2T>C rs2539231409 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter) rs1393186135 0.00001
NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser) rs1248898751 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter) rs536394774 0.00001
NM_001360.3(DHCR7):c.626+1G>T rs1471145742 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) rs1329227520 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter) rs1949389789 0.00001
NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser) rs774275482 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926 0.00001
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
NC_000011.9:g.(?_71146411)_(71152496_?)del
NM_001360.3(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1033_1042dup (p.Tyr348fs)
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) rs371302153
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1139_1140delinsTA (p.Cys380Leu)
NM_001360.3(DHCR7):c.1155_1162del (p.Asp386fs)
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter) rs1467346010
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) rs1219026826
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1231_1234del (p.Gly410_Asp411insTer)
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) rs747656720
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) rs2135939533
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly) rs535561852
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) rs781687341
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) rs1591107062
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe) rs1325144749
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys) rs2135939447
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala) rs2539207660
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser) rs750211727
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu) rs1949379416
NM_001360.3(DHCR7):c.155_157delinsCCAT (p.Phe52fs) rs2539236911
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.177_178delinsT (p.Met59fs) rs2539236798
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter) rs1372014207
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr) rs2120355008
NM_001360.3(DHCR7):c.199del (p.Ala67fs) rs2539236641
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys) rs80338853
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter) rs1949375897
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter) rs1342235041
NM_001360.3(DHCR7):c.322-1G>A rs1565588719
NM_001360.3(DHCR7):c.322-1G>C rs1565588719
NM_001360.3(DHCR7):c.322-2A>G rs1555146618
NM_001360.3(DHCR7):c.322_330del
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His) rs1949357539
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) rs2135945513
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter) rs1949357136
NM_001360.3(DHCR7):c.401_402del (p.Val134fs) rs2539231473
NM_001360.3(DHCR7):c.413-1G>A rs1057517307
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter) rs1343783336
NM_001360.3(DHCR7):c.495_496del (p.Ser166fs) rs2539228241
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter) rs1427321619
NM_001360.3(DHCR7):c.523G>C (p.Asp175His)
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn) rs2539227981
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys) rs1032242817
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys) rs1032242817
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter) rs2539227728
NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu) rs2539227507
NM_001360.3(DHCR7):c.626+1G>C rs1471145742
NM_001360.3(DHCR7):c.626+2del rs2539227294
NM_001360.3(DHCR7):c.626+2dup rs1591111319
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter) rs1949322246
NM_001360.3(DHCR7):c.630del (p.Lys210fs) rs2539221960
NM_001360.3(DHCR7):c.636del (p.Gly213fs)
NM_001360.3(DHCR7):c.655T>C (p.Tyr219His) rs779896782
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro) rs80338857
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu) rs80338857
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) rs767031102
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) rs104894212
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly) rs770925697
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile) rs2539220764
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) rs774275482
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) rs139787408
NM_001360.3(DHCR7):c.831+1G>T
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp) rs2539217163
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser) rs1222259994
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr) rs745498103
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp) rs200334114
NM_001360.3(DHCR7):c.901C>A (p.His301Asn) rs1267495194
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.903_906delinsATTT (p.His301Gln)
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val) rs2539216665
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg) rs142808899
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu) rs2539216631
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter) rs2539216620
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp) rs1565586046
NM_001360.3(DHCR7):c.934_935del (p.Val312fs) rs1469918162
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His) rs1177326550
NM_001360.3(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) rs1457166572
NM_001360.3(DHCR7):c.963+1G>A
NM_001360.3(DHCR7):c.963+1G>T rs1057516973
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.964-31_970delinsTGTCCACCCCGC
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) rs1333822866
NM_001360.3(DHCR7):c.98+1G>C
NM_001360.3(DHCR7):c.98+1G>T rs2539239056
NM_001360.3(DHCR7):c.98+2T>C
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.3(DHCR7):c.99-1G>C rs1451108193
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.3(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.998C>T (p.Ser333Phe) rs1949273401
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter) rs2539237303

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